Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50697558_50697582del , CM000684.2:g.50697558_50697582del | GRCh38 |
| NC_000022.10:g.51135986_51136010del , CM000684.1:g.51135986_51136010del | GRCh37 |
| NC_000022.9:g.49482852_49482876del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262795.7:c.948-6_966del | ||
| ENST00000414786.7:n.1532-6_1550del | ||
| ENST00000673971.2:c.1305-6_1323del | ||
| ENST00000262795.6:c.948-6_966del | ||
| ENST00000673971.1:c.1305-6_1323del | ||
| ENST00000262795.5:c.1345-7_1362del | ||
| ENST00000414786.6:n.1532-6_1550del | ||
| ENST00000445220.5:c.1326-6_1344del |